EEF1A1

Description

The EEF1A1 (eukaryotic translation elongation factor 1 alpha 1) is a protein-coding gene located on chromosome 6.

EEF1A1 is a translation elongation factor, encoded by the EEF1A1 gene. It is responsible for delivering aminoacyl tRNAs to the ribosome during protein synthesis. This isoform is expressed in brain, placenta, lung, liver, kidney, and pancreas. It has been identified as an autoantigen in patients with Felty's syndrome. EEF1A1 has multiple copies on many chromosomes, some of which may be pseudogenes. Mammalian eEF1A has two paralogs, eEF1A1 and eEF1A2, with high amino acid sequence homology. The sequences of their promoter regions are also highly similar, though that of the eEF1A2 gene contains an additional 81 bp SV40 small antigen sequence at the 5′-end. The EEF1A1 5' UTR also contains a terminal oligopyrimidine tract. These two isoforms demonstrate differences in expression and function: eEF1A1 is expressed in most cells while eEF1A2 is only expressed in adult neuronal and muscle cells, and only eEF1A1 induces HSP70 during heat shock.

EEF1A1 is a translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome. The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation. EEF1A1 also plays a role in the positive regulation of IFNG transcription in T-helper 1 cells as part of an IFNG promoter-binding complex with TXK and PARP1.

EEF1A1 is also known as CCS-3, CCS3, EE1A1, EEF-1, EEF1A, EF-Tu, EF1A, EF1A1, EF1alpha1, GRAF-1EF, LENG7, PTI1, eEF1A-1.

Associated Diseases

WES Whole Exome Sequencing